Zhang Jing, Li Yue, Dai Yiqin, Xu Jianjiang
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
NHC Key Laboratory of Myopia, Fudan University, Shanghai, China.
Ann Transl Med. 2021 Apr;9(8):616. doi: 10.21037/atm-20-6654.
A recent genome-wide association study (GWAS) identified a significant association between the single nucleotide polymorphism (SNP) rs2371597 in the stonin 2 gene () and keratoconus (KCTN) susceptibility. The current study further explored the association between and KCTN susceptibility in an independent Han Chinese population.
Three SNPs (rs2371597, rs8004137, and rs8008602) located in the gene were examined in 164 Han Chinese patients with KCTN and 239 age- and gender-matched healthy subjects. The TaqMan SNP genotyping assays were performed, and the LDlink, RegulomeDB, and PLINK package were applied for data analyses. The gene expression levels of were investigated in various murine organ tissues using quantitative real-time polymerase chain reaction (qRT-PCR).
The SNP rs2371597 was significantly associated with KCTN risk in this Han Chinese population. The frequency of the C allele in KCTN patients was significantly higher than that in healthy subjects [34.8% . 26.6%; odds ratio (OR) =1.47; 95% confidence interval (CI): 1.08 to 2.02; P=0.01409]. The genotype distribution of the SNP rs2371597 was also significantly different between KCTN patients and controls. The other two genotyped SNPs allele and genotypic frequencies were not remarkably different between the KCTN group and the control group. However, the haplotype CAT formed by the three SNPs was substantially associated with the risk of KCTN (P=0.04101). Also, gene expression pattern analysis showed a relatively higher expression of in the cornea in comparison to other tissues.
The current study demonstrated that SNPs in the gene were associated with an increased risk of developing KCTN in this Han Chinese population, suggesting that the gene may play an important role in the etiology of KCTN.
最近一项全基因组关联研究（GWAS）确定了石蒜蛋白2基因（）中的单核苷酸多态性（SNP）rs2371597与圆锥角膜（KCTN）易感性之间存在显著关联。本研究在一个独立的汉族人群中进一步探讨了该基因与KCTN易感性之间的关联。
在164例汉族KCTN患者和239例年龄及性别匹配的健康受试者中检测了位于该基因的3个SNP（rs2371597、rs8004137和rs8008602）。进行了TaqMan SNP基因分型检测，并应用LDlink、RegulomeDB和PLINK软件包进行数据分析。使用定量实时聚合酶链反应（qRT-PCR）研究了该基因在各种小鼠器官组织中的基因表达水平。
在这个汉族人群中，SNP rs2371597与KCTN风险显著相关。KCTN患者中C等位基因的频率显著高于健康受试者[34.8%对26.6%；比值比（OR）=1.47；95%置信区间（CI）：1.08至2.02；P=0.01409]。SNP rs2371597的基因型分布在KCTN患者和对照组之间也有显著差异。其他两个基因分型的SNP的等位基因和基因型频率在KCTN组和对照组之间没有显著差异。然而，由这三个SNP形成的单倍型CAT与KCTN风险显著相关（P=0.04101）。此外，基因表达模式分析显示，与其他组织相比，该基因在角膜中的表达相对较高。
本研究表明，该基因中的SNP与这个汉族人群中发生KCTN的风险增加有关，提示该基因可能在KCTN的病因学中起重要作用。
